Incidental Mutation 'IGL02680:4921524L21Rik'
| ID |
303350 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4921524L21Rik
|
| Ensembl Gene |
ENSMUSG00000039540 |
| Gene Name |
RIKEN cDNA 4921524L21 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02680
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
6603629-6638970 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 6635949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044829]
|
| AlphaFold |
Q9D5T2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044829
|
| SMART Domains |
Protein: ENSMUSP00000035514
Gene: ENSMUSG00000039540
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3496
|
131 |
235 |
6.9e-12 |
PFAM |
|
coiled coil region
|
269 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
419 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a3 |
C |
A |
7: 66,055,895 (GRCm39) |
V299F |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,709,275 (GRCm39) |
Y747H |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,180,000 (GRCm39) |
I107T |
probably damaging |
Het |
| Atmin |
A |
T |
8: 117,684,236 (GRCm39) |
D632V |
probably damaging |
Het |
| Atp5pd |
C |
A |
11: 115,306,840 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,838,895 (GRCm39) |
E81G |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,128,797 (GRCm39) |
V67A |
possibly damaging |
Het |
| Cfap100 |
C |
T |
6: 90,389,217 (GRCm39) |
V335I |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,180,381 (GRCm39) |
D181E |
probably benign |
Het |
| Efcab14 |
T |
A |
4: 115,597,615 (GRCm39) |
I70N |
probably damaging |
Het |
| Frzb |
T |
C |
2: 80,254,970 (GRCm39) |
T189A |
possibly damaging |
Het |
| Fstl3 |
G |
A |
10: 79,614,506 (GRCm39) |
W69* |
probably null |
Het |
| Gjb3 |
C |
T |
4: 127,219,815 (GRCm39) |
C239Y |
probably damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Inpp5d |
A |
G |
1: 87,629,205 (GRCm39) |
T397A |
possibly damaging |
Het |
| Myh11 |
G |
T |
16: 14,027,384 (GRCm39) |
H1283Q |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,420,256 (GRCm39) |
V1338A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,890,846 (GRCm39) |
S7229P |
unknown |
Het |
| Or1l4b |
A |
T |
2: 37,036,427 (GRCm39) |
I68F |
probably damaging |
Het |
| Pfkp |
G |
A |
13: 6,650,708 (GRCm39) |
|
probably benign |
Het |
| Pop1 |
T |
A |
15: 34,502,619 (GRCm39) |
I102K |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,891,290 (GRCm39) |
M732V |
probably benign |
Het |
| Rsc1a1 |
A |
G |
4: 141,412,408 (GRCm39) |
V168A |
probably benign |
Het |
| Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,495,125 (GRCm39) |
Y372F |
probably damaging |
Het |
| Slc35c2 |
G |
T |
2: 165,124,055 (GRCm39) |
T94K |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,119,728 (GRCm39) |
Y345H |
probably benign |
Het |
| Slc5a11 |
T |
C |
7: 122,864,854 (GRCm39) |
S387P |
probably damaging |
Het |
| Smg7 |
T |
A |
1: 152,721,145 (GRCm39) |
N727I |
probably benign |
Het |
| Steap2 |
A |
T |
5: 5,723,474 (GRCm39) |
F469I |
probably benign |
Het |
| Tex2 |
T |
A |
11: 106,459,058 (GRCm39) |
|
probably benign |
Het |
| Tmem79 |
A |
G |
3: 88,240,270 (GRCm39) |
L226P |
probably damaging |
Het |
| Tnfrsf14 |
G |
T |
4: 155,008,927 (GRCm39) |
C165* |
probably null |
Het |
| Trim21 |
A |
G |
7: 102,208,870 (GRCm39) |
V283A |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,948 (GRCm39) |
M274L |
probably benign |
Het |
|
| Other mutations in 4921524L21Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01286:4921524L21Rik
|
APN |
18 |
6,629,578 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01402:4921524L21Rik
|
APN |
18 |
6,638,653 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01404:4921524L21Rik
|
APN |
18 |
6,638,653 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
PIT4812001:4921524L21Rik
|
UTSW |
18 |
6,630,053 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0532:4921524L21Rik
|
UTSW |
18 |
6,638,618 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1069:4921524L21Rik
|
UTSW |
18 |
6,624,037 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1706:4921524L21Rik
|
UTSW |
18 |
6,624,059 (GRCm39) |
splice site |
probably benign |
|
|
R1768:4921524L21Rik
|
UTSW |
18 |
6,623,470 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1912:4921524L21Rik
|
UTSW |
18 |
6,620,205 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3820:4921524L21Rik
|
UTSW |
18 |
6,630,166 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3840:4921524L21Rik
|
UTSW |
18 |
6,620,104 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3841:4921524L21Rik
|
UTSW |
18 |
6,620,104 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4201:4921524L21Rik
|
UTSW |
18 |
6,623,952 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4852:4921524L21Rik
|
UTSW |
18 |
6,623,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4852:4921524L21Rik
|
UTSW |
18 |
6,623,487 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5218:4921524L21Rik
|
UTSW |
18 |
6,629,628 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5389:4921524L21Rik
|
UTSW |
18 |
6,638,795 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5428:4921524L21Rik
|
UTSW |
18 |
6,635,918 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5873:4921524L21Rik
|
UTSW |
18 |
6,630,167 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6120:4921524L21Rik
|
UTSW |
18 |
6,638,795 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6345:4921524L21Rik
|
UTSW |
18 |
6,626,399 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7246:4921524L21Rik
|
UTSW |
18 |
6,635,902 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7296:4921524L21Rik
|
UTSW |
18 |
6,626,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8796:4921524L21Rik
|
UTSW |
18 |
6,629,482 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8897:4921524L21Rik
|
UTSW |
18 |
6,635,934 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8930:4921524L21Rik
|
UTSW |
18 |
6,629,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8932:4921524L21Rik
|
UTSW |
18 |
6,629,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8991:4921524L21Rik
|
UTSW |
18 |
6,620,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9108:4921524L21Rik
|
UTSW |
18 |
6,638,794 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9235:4921524L21Rik
|
UTSW |
18 |
6,623,518 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9642:4921524L21Rik
|
UTSW |
18 |
6,619,412 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:4921524L21Rik
|
UTSW |
18 |
6,635,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation